Canonical Allele Identifier: CA2667757727

Gene: TOPBP1

Linked Data

• dbSNP Id: rs2107762257
• gnomAD v4: 3-133600767-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.133600767T>C , CM000665.2:g.133600767T>C	GRCh38
NC_000003.11:g.133319611T>C , CM000665.1:g.133319611T>C	GRCh37
NC_000003.10:g.134802301T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000260810.10:c.*483A>G MANE Select	ENSP00000260810.5:n.*483A>G
ENST00000642236.1:c.*483A>G	ENSP00000493612.1:n.*483A>G
ENST00000260810.9:c.*483A>G	ENSP00000260810.5:n.*483A>G
ENST00000503338.5:n.163-2137A>G
ENST00000503464.1:n.163-2137A>G
NM_007027.3:c.*483A>G	NP_008958.2:n.*483A>G
XM_005247076.2:c.*483A>G	XP_005247133.1:n.*483A>G
NM_001363889.1:c.*483A>G	NP_001350818.1:n.*483A>G
XM_017005636.2:c.*483A>G	XP_016861125.1:n.*483A>G
XM_017005637.2:c.*483A>G	XP_016861126.1:n.*483A>G
XR_001739988.2:n.5080A>G
NM_001363889.2:c.*483A>G	NP_001350818.1:n.*483A>G
NM_007027.4:c.*483A>G MANE Select	NP_008958.2:n.*483A>G